nsv949553
- Organism: Homo sapiens
- Study:nstd85 (vanSilfhout et al. 2013)
- Variant Type:copy number variation
- Method Type:SNP array
- Submitted on:NCBI35 (hg17)
- Variant Calls:1
- Validation:Not tested
- Clinical Assertions: No
- Region Size:248,599
- Publication(s):Vulto-van Silfhout et al. 2013
Source: NCBI
- Genome View
- Variant Region Details and Evidence
- Validation Information
- Clinical Assertions
- Genotype Information
Genome View
Select assembly:Overlapping variant regions from other studies: 758 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 758 SVs from 43 studies. See in: genome view
Overlapping variant regions from other studies: 48 SVs from 3 studies. See in: genome view
Variant Region Placement Information
| Variant Region ID | Placement Type | Score | Assembly | Assembly Unit | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nsv949553 | Remapped | Perfect | GRCh38.p12 | Primary Assembly | First Pass | NC_000023.11 | ChrX | 100,264,450 | 100,513,048 |
| nsv949553 | Remapped | Perfect | GRCh37.p13 | Primary Assembly | First Pass | NC_000023.10 | ChrX | 99,519,448 | 99,768,045 |
| nsv949553 | Submitted genomic | NCBI35 (hg17) | Primary Assembly | NC_000023.8 | ChrX | 99,325,593 | 99,574,190 |
Variant Call Information
| Variant Call ID | Type | Method | Analysis | Copy number |
|---|---|---|---|---|
| nssv2768275 | copy number gain | SNP array | SNP genotyping analysis | 3 |
Variant Call Placement Information
| Variant Call ID | Placement Type | Score | HGVS | Assembly | Reciprocity | Sequence ID | Chr | Inner Start | Inner Stop |
|---|---|---|---|---|---|---|---|---|---|
| nssv2768275 | Remapped | Perfect | NC_000023.11:g.(?_ 100264450)_(100513 048_?)dup | GRCh38.p12 | First Pass | NC_000023.11 | ChrX | 100,264,450 | 100,513,048 |
| nssv2768275 | Remapped | Perfect | NC_000023.10:g.(?_ 99519448)_(9976804 5_?)dup | GRCh37.p13 | First Pass | NC_000023.10 | ChrX | 99,519,448 | 99,768,045 |
| nssv2768275 | Submitted genomic | NC_000023.8:g.(?_9 9325593)_(99574190 _?)dup | NCBI35 (hg17) | NC_000023.8 | ChrX | 99,325,593 | 99,574,190 |